A complex chromosomal rearrangement with formation of a ring 4.
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چکیده
منابع مشابه
A complex chromosomal rearrangement with formation of a ring 4.
Ring chromosome formation, though uncommon, is now a well-recognized cause of congenital anomalies in man. On the basis of early work in other organisms, it is assumed that ring formation involves a break in each arm of the chromosome, with reunion to form a centric ring and an acentric fragment. The latter is subsequently lost, and the phenotype results essentially from deletion of this chromo...
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15 صفحه اولComplex chromosomal rearrangement leading to partial trisomy 22.
We have examined a boy with a peculiar facial appearance and mental retardation. Cytogenetic studies showed 47,XY, monosomy 22, two marker chromosomes, M1 and M2. The karotype is interpreted as functionally partial trisomy 22. Chromosome analyses of both parents and three sibs were normal.
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1971
ISSN: 1468-6244
DOI: 10.1136/jmg.8.2.235